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Neurofibromatosis (von Recklinghausen's syndrome): Symptoms, Cause and Treatment

What is Neurofibromatosis (von Recklinghausen's syndrome)?

Neurofibromatosis (von Recklinghausen's syndrome) is an autosomal dominant disease characterized by development of multiple non cancerous tumors of nerves and skin . It may occur anywhere in the body.

Types of Neurofibromatosis

There are three types of Neurofibromatosis ( NF ) but mostly first two type affects people and third one is rare type of this disease.

  1. Neurofibromatosis 1
  2. Neurofibromatosis 2
  3. Schwannomatosis
  1. Neurofibromatosis 1: Neurofibromatosis 1 is also called as von Recklinghausen NF it is pass on to the chromosome 17 and it is caused by mutation of the NF1 gene. This type can create skin pigmentation on the body which may be occur after the birth of child. In this type various tumors occur on the skin and under the skin which may be cancerous.It occurs to 1 in 3000 birth and now present in 30 in 10000 person
  2. Neurofibromatosis 2: Neurofibromatosis 2 pass on to the chromosome 22 and it is caused by mutation of the NF2 gene. In this type tumors appears in the nerves system like skull and spinal canal. It may result in loss of sense and hearing loss which may be at the time of teen age and it may be in the early 20. It may also be cancerous or it is dangerous type of this disease. It occur to the1 in 100,000.
  3. Schwannomatosis: It is very rare type of Neurofibromatosis, doesn't affect more to the people. It this type benign tumors occurs in the peripheral nerve fiber cells which doesn't cause to neurological disabilities or malignant tumors.

Causes of Neurofibromatosis

There are main two type of Neurofibromatosis and both occur because of different reasons

  • Neurofibromatosis 1 occurs due to the mutation of the NF1 gene and it transmitted on chromosome 17.
  • Neurofibromatosis 2 occurs due to the mutation of the NF2 gene and it transmitted on chromosome 22.

Symptoms of Neurofibromatosis

  • In this type early symptoms includes pigmented spots on the skin in any where in the body which known as "café ¡u lait" because of their colour.
  • After time passes various tumors occur on the skin and under the skin which may be very painful and may be very dangerous.
  • Dizziness
  • Vision and hearing loss
  • Learning disabilities
  • Deformity of bone
  • Ringing in the ears
  • Loss of the balance

Treatment of Neurofibromatosis

  • Excision or biopsy should be performed for the large Neurofibromatosis.
  • Surgery may performed to remove benign tumors which are very painful.
  • High energy x-rays is used to shrink tumors.

Disclaimer: This site is for educational purposes only. The information provided should not be used for diagnosing or treating a health problem or disease. If you have, or suspect you have a health problem, you should consult your health care provider.